| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3745291G>T | CA171792 | CREBBP | c.3900C>A (p.Ile1300=) c.3786C>A (p.Ile1262=) c.2535C>A (p.Ile845=) n.364C>A c.206C>A c.3855C>A (p.Ile1285=) c.3483C>A (p.Ile1161=) c.3846C>A (p.Ile1282=) c.3147C>A (p.Ile1049=) c.3894C>A (p.Ile1298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3745291G>A | CA276987564 | CREBBP | c.3900C>T (p.Ile1300=) c.3786C>T (p.Ile1262=) c.2535C>T (p.Ile845=) n.364C>T c.206C>T c.3855C>T (p.Ile1285=) c.3483C>T (p.Ile1161=) c.3846C>T (p.Ile1282=) c.3147C>T (p.Ile1049=) c.3894C>T (p.Ile1298=) | dbSNP gnomAD v4 |
| 16 | g.3745291G>C | CA394566745 | CREBBP | c.3900C>G (p.Ile1300Met) c.3786C>G (p.Ile1262Met) c.2535C>G (p.Ile845Met) n.364C>G c.206C>G c.3855C>G (p.Ile1285Met) c.3483C>G (p.Ile1161Met) c.3846C>G (p.Ile1282Met) c.3147C>G (p.Ile1049Met) c.3894C>G (p.Ile1298Met) | dbSNP |